Is the Multi-Cancer Panel test right for you?

If you have a complex personal – or family – history of cancer (in other words, have been diagnosed with more than one type of cancer), then this test could help accurately diagnose, treat and manage the risks to your health.

It is a comprehensive analysis of your genetic risk of developing common cancers across eight major organ systems as well as the rarer Sarcoma cancers that grow in connective tissue — cells that connect or support other kinds of tissue in your body

What sort of decisions will this test help me to make?

If you have not been diagnosed, this test will look at your risks so that you and your clinician can decide when to start any specific screening, such as mammogram/breast MRI, colonoscopy and, prostate cancer screening, and how often it should be repeated.

It maybe that you should consider preventative surgery such prophylactic mastectomy/colectomy (removing breasts or all or part of the colon before a cancer occurs) or other risk-reducing measures.

Informing treatment decisions

If you have been diagnosed, this test can help you and your clinician identify which could be the most effective chemotherapy for you – and importantly, any that are unlikely to be help you so that you can avoid unnecessary side effects. This test can also help determine whether you are eligible for any specific clinical trials.

Your family

This test can also indicate if other member of your family may have hereditary risk of developing cancers – and therefore what steps they need to take for further screening or monitoring.

You can discuss this with your clinician, or if you would like to talk to one of our experts about the test, call us on +44 (0) 7495 981816

What do I need to do?

It’s a simple ‘spit test’ that you can do in your own home – we don’t need a blood sample, all we need is your saliva. You’ll receive a kit in the post with clear instructions on giving your sample together with all the paperwork you need to sign, which you then post back to us.

Step 2: Collection of sample

We will liaise directly with your clinician and organise the collection of your sample and delivery to the laboratory.

Step 3: Analysis and reporting

Your sample will be analysed and a report will be generated, usually within 10–21 calendar days (14 days on average) of receipt of your sample in the laboratory.

Step 4: Results

Your clinician will receive the test report giving a clear indication of whether you are at risk of certain cancers, or if you have already been diagnosed, it will enable you to have an informed decision about treatment options and your eligibility for any relevant clinical trials.

What your results mean for you.

Your clinician will be able to discuss your results and their implications for you, but as a guide:

Positive

A positive result does NOT mean you have cancer, or that you will definitely develop it.

It does means that a mutation, or genetic change, has been identified in a specific gene that increases the chance of your developing certain cancers in your lifetime – and your personal results will provide more detailed information specific to you. Talk to your clinician about creating a screening and management plan for you, and to identify relatives who may also need to be tested.

Negative

A negative result means that no mutations or genetic changes associated with an increased risk of the most common hereditary cancers were identified in the genes that were analysed. The result does not eliminate your risk of developing cancer completely as there are other factors, such as lifestyle, or perhaps mutations not detected by current technology or mutations in other genes. Again, talk to your clinician about what the results mean for you.

Variant of uncertain significance

This is where a gene mutation has been found, but at present we do not know if this affects your risk of certain cancers. In this case, your clinician will be able to talk about screening recommendations based on your personal and family medical histories and if new information becomes available, Invitae will update your clinician.

Is the Multi-Cancer Panel test right for your patient?

a personal or family history presenting with multiple cancer types that could fit the features of more than one hereditary cancer syndrome

a clinical history indicative of a hereditary cancer syndrome but a limited pedigree due to small family size or adoption

There are also some common general features suggestive of a family with hereditary cancer syndrome. These include:

cancer diagnosed at an unusually young age

different types of cancer that have occurred independently in the same person

cancer that has developed in both organs of a set of paired organs (e.g., both kidneys, both breasts)

several close blood relatives that have the same type of cancer

unusual cases of a specific cancer type (e.g., male breast cancer)

Scope of the test

The Invitae Multi-Cancer Panel analyses 83 genes associated with hereditary cancers across eight major organ systems. Individuals with a pathogenic variant in one of the genes on this panel have an increased risk of developing cancer, many of which may be difficult both to detect and to treat. Identifying those at elevated risk may guide implementation of additional screening, surveillance, and interventions. These efforts may result in risk-reduction and early diagnosis, increasing the chances of successful treatment and survival.

Breast cancer

The average woman’s lifetime risk of developing breast cancer is 12%. Although there are a number of other genes associated with hereditary breast cancer, hereditary breast and ovarian cancer syndrome (HBOC) due to pathogenic variants in BRCA1 and BRCA2 accounts for most cases in individuals with a strong family history or an early onset diagnosis.

Ovarian

The general population risk for ovarian cancer is 1.3%. Lynch syndrome and hereditary breast and ovarian cancer syndrome (HBOC) are due to pathogenic variants in the BRCA1 and BRCA2 genes and are the most common causes of inherited ovarian cancer. Although ovarian cancer can also be caused by pathogenic variants in several other hereditary cancer genes.

Uterine

The general population risk for uterine cancer is 2.7%. Lynch syndrome is the most common inherited cause of uterine cancer, although there are a number of other hereditary cancer genes associated with this cancer type.

Colorectal

Colorectal cancer (CRC) is the third-most-common cancer diagnosis in the United States. Hereditary colorectal cancer syndromes are generally divided into two types: Lynch syndrome and polyposis syndromes. Lynch syndrome, also called hereditary non-polyposis colon cancer (HNPCC), is caused by pathogenic variants in EPCAM, MLH1, MSH2, MSH6, and PMS2 and is the most common inherited cause of colorectal cancer. Polyposis syndromes are characterised by the development of numerous precancerous polyps, which may become malignant.

Gastric

Gastric cancer occurs in approximately 1 in 93 individuals in the general population. Gastric adenocarcinomas account for 90%–95% of gastric cancers and are further histologically divided into intestinal type and diffuse type. Pathogenic variants in CDH1 are the most common cause of hereditary gastric cancer; however, there are a number of other genes associated with an increased risk of gastric tumours. Gastrointestinal stromal tumours (GISTs) are characterised as sarcomas and are rare tumours of the GI tract that account for 1%–3% of all gastric cancers. This panel includes genes that increase risk for each of these types of gastric tumours.

Pancreatic

There are two main types of pancreatic cancer: cancer of the exonic pancreas (pancreatic adenocarcinoma), which accounts for 95% of pancreatic tumours, and pancreatic neuroendocrine tumours. Hereditary pancreatic cancer can be caused by BRCA2 and CDKN2A, as well as by several other genes. This panel contains genes that are most commonly associated with an increased risk for both types of pancreatic cancer.

Renal/urinary tract

The general population risk of developing kidney cancer is approximately 1.6%. The lifetime risk of developing bladder cancer is 1%–3.8%, with approximately 75,000 new cases diagnosed in the United States each year. Unlike sporadic cases, hereditary cancers of the kidneys and urinary tract are often characterised by earlier disease onset or multifocal or bilateral tumours. Hereditary urinary tract cancers may also be syndromic and associated with other non-urinary features.

Prostate

A man’s lifetime risk for developing prostate cancer is 1 in 7 (15%). Inherited pathogenic variants in certain genes—particularly ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, and TP53—account for some cases of hereditary prostate cancer. Men with pathogenic variants in these genes have an increased risk of developing prostate cancer and, in some cases, other cancers as well.

Melanoma

Most cases of melanoma are isolated and sporadic. While the number of individuals who have an inherited risk of melanoma is unknown, it is thought to be low. An estimated 8% of individuals with melanoma also have a first-degree relative with melanoma; approximately 1%–2% of people with melanoma have two or more affected close relatives. This panel includes genes associated with an increased risk for melanoma.

Thyroid

Thyroid cancer occurs in approximately 13 per 100,000 individuals in the general population each year. The most common type of thyroid cancer, accounting for over 90% of all cases, is non-medullary thyroid cancer (NMTC). Approximately 3%–10% of NMTC cases have a familial component. Medullary thyroid carcinoma (MTC) is a relatively uncommon type of thyroid malignancy and is more strongly associated with hereditary cancer syndromes.The familial form of MTC accounts for 20%–25% of cases and is usually a component of multiple endocrine neoplasia type 2 (MEN2), including subtypes MEN2A and MEN2B, or presents as familial MTC (FMTC) syndrome.

Paraganglioma (PGL) and pheochromocytoma (PCC)

PGL are rare, adult-onset neuroendocrine tumours that may or may not be malignant. PGL can develop throughout the body, from the middle ear and skull base (called head and neck PGL, or HNP) to the adrenal glands (called pheochromocytomas (PCC)). Most cases are sporadic, but approximately one-third are familial. Familial PGL/PCC can be non-syndromic; however, it can also be a feature of an underlying condition such as neurofibromatosis type 1, von Hippel-Lindau syndrome, or multiple endocrine neoplasia type 2. This panel includes genes associated with hereditary PGL/PCC.

Brain and nervous system (including central nervous system (CNS) and peripheral nervous system (PNS)

The general population risk for developing a CNS tumour is 0.55%–0.69%. PNS tumours are rare in adults and children while CNS tumours are the most common cancers among children ages 0–19. Approximately 5% of CNS tumours are hereditary and due to a pathogenic variant (an identifiable change in a gene); the remainder are isolated and occur sporadically. Unlike sporadic cases, both hereditary CNS and PNS tumours may be syndromic and associated with extra-CNS features.

Sarcoma

A sarcoma is a rare type of cancer that develops from a variety of connective tissues, including bone, soft tissue, fat, muscle, nerves, fibrous tissues, blood vessels, and deep skin tissues. Sarcomas most often develop in the limbs, but can be found in any part of the body. Most cases are sporadic and not inherited, but several known hereditary conditions are associated with an increased risk of sarcoma. Inherited pathogenic variants in certain genes, such as those included on this panel, account for some cases of hereditary sarcoma. Individuals with pathogenic variants in these genes have an increased risk of developing sarcomas and, in some cases, other cancers as well.

Myelodysplastic syndrome (MDS)/leukaemia

MDS and acute myeloid leukaemia (AML) generally occur in the elderly population and the incidence increases with age. Cases of early onset MDS/AML in children or young adults may be associated with underlying genetic predisposition syndromes. Hereditary MDS or AML may occur due to certain genetic syndromes that are typically associated with other distinctive, characteristic features. Isolated familial MDS/AML is characterised by a strong family history of MDS or AML without other apparent phenotypic features. Isolated familial occurrences appear to be rare, but may be underdiagnosed. This panel includes genes that may increase risk for MDS and leukaemia.